CADPS2 wt Allele

Preferred Label : CADPS2 wt Allele;

NCIt synonyms : CAPS2; Calcium Dependent Secretion Activator 2 wt Allele; KIAA1591;

NCIt definition : Human CADPS2 wild-type allele is located in the vicinity of 7q31.32 and is approximately 568 kb in length. This allele, which encodes calcium-dependent secretion activator 2 protein, plays a role in the exocytosis of neuropeptides and neurotransmitters. Mutation of the gene may be associated with autism.;

NCI Metathesaurus CUI : CL937987;

GenBank Accession Number : NM_017954;

Details

Origin ID

C158576;

UMLS CUI

C4761553;

Automatic exact mappings (from CISMeF team)
- Calcium-dependent activator protein for secretion 2 [OMIM gene]
- Calcyphosine 2 [OMIM gene]
- Muckle-wells syndrome [OMIM Phenotype]
OMIM relation
- Calcium-dependent activator protein for secretion 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Exocytosis [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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